Author

Luke A. Perera

University of CambridgeORCID 0000-0002-0032-1176Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alice GardhamiD· 1 shared Andrew Tym HattersleyiD· 1 shared David RoniD· 1 shared Elisa De FrancoiD· 1 shared Heather P. HardingiD· 1 shared Ibrahim Mohsina· 1 shared Jamal RazaiD· 1 shared Matthew Neil WakelingiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alice GardhamORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineEMBO Molecular MedicinePeer-reviewedJan 27, 2023

A homozygous p.(Arg371Ser) mutation in FICD de-regulates AMPylation of the human endoplasmic reticulum chaperone BiP causing infancy-onset diabetes and severe neurodevelopmental delay

Luke A. Perera, Andrew Tym Hattersley, Heather P. Harding…·Elisa De Franco

33 citationstop 3%

humanstatistical model